Refining Information Technology (IT) Support for Genetics in Medicine Challenge Area: Translational Science Challenge Topic: 15-LM-101 Presenting genome information in electronic health records The clinical use of genetic testing is expanding and as a result the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time. However, the combination of more testing and the rapid evolution of genetic knowledge make it impossible for clinicians to fully account for the latest implications of their patients'genetic profiles as patient care decisions are made. This proposed study plans to enhance and evaluate IT infrastructure developed to provide timely genetic variant updates and patient search functionality to clinicians to assist in optimizing patient care. Partners HealthCare has deployed and is continuing to enhance laboratory and electronic health record (EHR) infrastructure designed to support clinician use of genetic data. A key initial piece of this infrastructure has been development of a display in the EHR of the results of genetic tests previously run in our Laboratory for Molecular Medicine. The enhancements that are currently planned will allow clinicians to proactively manage situations where new information is learned about variants previously identified in their patient population. In this proposal, we plan to study and evaluate the effectiveness of this infrastructure as it is deployed into two new settings: 1. Cardiology clinics that order significant numbers of cardiomyopathy tests currently face challenges managing genetic test results. Approximately 8% of these tests are reported as inconclusive due to the presence of variants of unknown significance, as well as the majority of cases with insufficient data to be sure of the pathogenicity of the variants identified. These germline variant test results must be reinterpreted on an ongoing basis and ensuring that this reinterpretation occurs and is communicated to the physicians and their patients is challenging. 2. Massachusetts General Hospital (MGH) has begun offering an oncology test that assesses 110 specific markers. The knowledge surrounding these markers will undoubtedly evolve, and mechanisms will be required to act on this new knowledge as it is learned. Taken together, we believe these clinical settings will provide valuable insights into how to enable the management of genetic data and knowledge so that it is effectively leveraged in the care delivery process as the use of these technologies expands. Key components of the evaluation will be: 1. To assess the usability of successive versions of our EHR genetic display screens and variant-based patient search functionality by performing formal usability testing on successive iterations of the these tools to identify approaches that will be most helpful to clinicians. 2. To assess the decision making process associated with issuing alerts relating to new knowledge on a germline variant. This will be accomplished by tracking genetic variant updates that are and are not released from the queue. The opinions and recommendations of geneticists, genetic counselors, and treating clinicians will be gathered through interviews and will be important to understanding the effectiveness of the decision making process. 3. To measure the impact on efficiency of the new genetic knowledge being incorporated into clinical care as a result of improved genetic IT infrastructure support. For the cardiomyopathy tests, the average length of time that transpires before clinicians learn of updates will be compared between the current telephone call-based mechanism and automated alerts. For the cancer tests, usage of the patient search function will be tracked and successive interviews with treating clinicians regarding its use will be conducted. 4. To evaluate the satisfaction of treating clinicians, perceived clinical impact, and net effect on workload associated with deploying genetic infrastructure, a combination of call tracking, genetic IT infrastructure usage data, and surveys of genetic counselors, geneticists and treating clinicians will be used. The use of genetics in medicine is rapidly increasing. The combination of more testing and the rapid evolution of genetic knowledge will make it impossible for clinicians to fully account for the latest implications of their patients'genetic profiles as patient care decisions are made. Scalable IT infrastructure designed to support clinician use of genetic data will be critical. This project will evaluate genetic IT infrastructure to proactively manage situations where new information is learned about previously reported genetic variants. Through usability studies, surveys, interviews, and usage data this project will evaluate: the usability of genetic display screens and variant-based patient search functionality, decision-making to determine proactive alerts about germline variant updates, efficiency of new genetic IT infrastructure support, and the satisfaction, perceived clinical impact, and net effect on clinician workload.